Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series
<p>Abstract</p> <p>Introduction</p> <p>Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract sy...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-09-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/5/1/471 |
| _version_ | 1811260466852265984 |
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| author | Mumford Andrew Bachli Esther B Kröger Arne Gubler Christoph |
| author_facet | Mumford Andrew Bachli Esther B Kröger Arne Gubler Christoph |
| author_sort | Mumford Andrew |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Introduction</p> <p>Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, was first described in 1995 and has an increasing number of recognized molecular defects within a regulatory region of the L-ferritin gene (<it>FTL</it>).</p> <p>Case presentation</p> <p>Two patients (32 and 49-year-old Caucasian men) from our ambulatory clinic were suspected as having this syndrome and a genetic analysis was performed. In both patients, sequencing of the <it>FTL </it>5' region showed previously described mutations within the iron responsive element (<it>FTL </it>c.33 C > A and <it>FTL </it>c.32G > C).</p> <p>Conclusion</p> <p>Hereditary hyperferritinemia cataract syndrome should be considered in all patients with unexplained hyperferritinemia without signs of iron overload, particularly those with juvenile bilateral cataracts. Liver biopsy and phlebotomy should be avoided in this disorder.</p> |
| first_indexed | 2024-04-12T18:47:46Z |
| format | Article |
| id | doaj.art-008b543c91ba4de58094d4ccd2725fe9 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-12T18:47:46Z |
| publishDate | 2011-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-008b543c91ba4de58094d4ccd2725fe92022-12-22T03:20:33ZengBMCJournal of Medical Case Reports1752-19472011-09-015147110.1186/1752-1947-5-471Hyperferritinemia without iron overload in patients with bilateral cataracts: a case seriesMumford AndrewBachli Esther BKröger ArneGubler Christoph<p>Abstract</p> <p>Introduction</p> <p>Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, was first described in 1995 and has an increasing number of recognized molecular defects within a regulatory region of the L-ferritin gene (<it>FTL</it>).</p> <p>Case presentation</p> <p>Two patients (32 and 49-year-old Caucasian men) from our ambulatory clinic were suspected as having this syndrome and a genetic analysis was performed. In both patients, sequencing of the <it>FTL </it>5' region showed previously described mutations within the iron responsive element (<it>FTL </it>c.33 C > A and <it>FTL </it>c.32G > C).</p> <p>Conclusion</p> <p>Hereditary hyperferritinemia cataract syndrome should be considered in all patients with unexplained hyperferritinemia without signs of iron overload, particularly those with juvenile bilateral cataracts. Liver biopsy and phlebotomy should be avoided in this disorder.</p>http://www.jmedicalcasereports.com/content/5/1/471 |
| spellingShingle | Mumford Andrew Bachli Esther B Kröger Arne Gubler Christoph Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series Journal of Medical Case Reports |
| title | Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series |
| title_full | Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series |
| title_fullStr | Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series |
| title_full_unstemmed | Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series |
| title_short | Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series |
| title_sort | hyperferritinemia without iron overload in patients with bilateral cataracts a case series |
| url | http://www.jmedicalcasereports.com/content/5/1/471 |
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